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22q11 Deletion Syndrome +
Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Khidr Prem Chandran Syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Antibody Deficiency due to Defect in CD19
Aphalangia Syndactyly Microcephaly
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
Autoinflammation, Immune Dysregulation, and Eosinophilia
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
autosomal dominant familial periodic fever
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome +
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
Branchial Cleft Anomalies
C9 Deficiency with Dermatomyositis
Camptodactyly Syndrome Guadalajara Type 2
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cardioacrofacial Dysplasia +
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cd4+ Lymphocyte Deficiency
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Chitty Hall Baraitser Syndrome
chromosome 13q14 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
combined immunodeficiency +
Combined Inflammatory and Immunologic Defect
combined oxidative phosphorylation deficiency 2
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
Congenital Progeroid Syndrome, Petty Type
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Daish Hardman Lamont Syndrome
Davenport Donlan Syndrome
Deltaretrovirus Infections +
dendritic cell deficiency +
Diaphanospondylodysostosis
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dyschondrosteosis and Nephritis
ectodermal dysplasia and immune deficiency +
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Endotoxin Hyporesponsiveness
epidermodysplasia verruciformis +
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
Fallot Complex with Severe Mental and Growth Retardation
Familial Behcet-Like Autoinflammatory Syndrome +
familial cold autoinflammatory syndrome +
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
Familial Thoracic Aortic Aneurysm 6
fetal encasement syndrome
Fetal Growth Retardation +
Forsythe-Wakeling Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
glycogen storage disease IX +
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Chaudhry Moss Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heme Oxygenase 1 Deficiency
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
human immunodeficiency virus infectious disease +
Humeroradial Synostosis with Craniofacial Anomalies
Hutterite Cerebroosteonephrodysplasia Syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
Hypoglobulinemia and Absent B Cells
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
Immune Deficiency Disease
Immune Deficiency, Familial Variable
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Immunodeficiency 78 with Autoimmunity and Developmental Delay
Immunodeficiency 87 and Autoimmunity
Immunodeficiency 89 and Autoimmunity
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunodeficiency 97 with Autoinflammation
Immunodeficiency 98 with Autoinflammation, X-Linked
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin beta deficiency
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Inosine Phosphorylase Deficiency, Immune Defect Due To
Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Leichtman Wood Rohn Syndrome
Leri-Weill dyschondrosteosis
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
linear skin defects with multiple congenital anomalies 2
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lymphoblastic Transformation, Intrinsic Defect in
lymphoproliferative syndrome +
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Maxillofacial Abnormalities +
Menke-Hennekam Syndrome +
Mental and Growth Retardation with Amblyopia
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microdontia Hypodontia Short Stature
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Milner Khallouf Gibson Syndrome
Mitochondrial Myopathy with Lactic Acidosis
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
Necrolytic Migratory Erythema
NEMO Mutation with Immunodeficiency
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
neurodevelopmental disorder with poor growth and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
neurodevelopmental disorder with spasticity and poor growth
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Osteolysis Syndrome, Recessive
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
Partington Anderson Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
phagocyte bactericidal dysfunction +
Pili Torti, Developmental Delay, Neurological Abnormalities
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Premature Aging, Okamoto Type
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progeria Short Stature Pigmented Nevi
Progressive Lymphoid System Deterioration
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Ritscher-Schinzel syndrome +
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke immuno-osseous dysplasia
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Short Stature and Facioauriculothoracic Malformations
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
SHOX-related short stature
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silver-Russell syndrome +
Silver-Russell Syndrome 3
Simosa Cranio Facial Syndrome
Slavotinek Pike Mills Hurst Syndrome
Splenogonadal Fusion with Limb Defects and Micrognathia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
spondylometaphyseal dysplasia corner fracture type
Spondyloocular Syndrome, Autosomal Recessive
Stern Lubinsky Durrie Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Synostosis of Talus and Calcaneus with Short Stature
T cell and NK cell immunodeficiency +
T Cell Immunodeficiency Primary
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
Thumb Agenesis, Short Stature, and Immunodeficiency
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Urioste Martinez-Frias Syndrome
Van Bogaert-Hozay Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Weill-Marchesani Syndrome 2
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Winter Shortland Temple Syndrome
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-linked mental retardation-hypotonic facies syndrome-1
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
Zerres Rietschel Majewski Syndrome
Zimmerman Laband Syndrome +
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